| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | |
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